X-linked hypophosphataemia.

IF 1.2 Q2 MEDICINE, GENERAL & INTERNAL

Tidsskrift for Den Norske Laegeforening Pub Date : 2025-02-26 Print Date: 2025-03-04 DOI:10.4045/tidsskr.24.0476

Qidi Wang, Cennet Akdeniz, Ansgar Heck, Mai Britt Bjørk, Ole Rasmus Theisen, Heidi Beate Eggesbø, Tormod B Krüger, Janne E Reseland, Hege Kampen Pihlstrøm, Bjørn Olav Åsvold, Guri Grimnes, Marianne Aardal Grytaas, Silje Hjort Rafaelsen, Per M Thorsby, Lena Lande Wekre, Trine E Finnes

引用次数: 0

Abstract

X-linked hypophosphataemia is a rare genetic disorder that causes renal phosphate wasting, impaired mineralisation of teeth and bones, skeletal deformities and limited mobility, all of which significantly impact on health and quality of life. This clinical review examines the recommendations for diagnosing, treating and monitoring adults with the condition.

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x连锁hypophosphataemia。

x连锁低磷血症是一种罕见的遗传性疾病，会导致肾脏磷酸盐浪费、牙齿和骨骼矿化受损、骨骼畸形和行动不便，所有这些都会对健康和生活质量产生重大影响。本临床综述探讨了诊断、治疗和监测成人此病的建议。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊